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Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.

作者信息

Annesi Grazia, Gambardella Antonio, Carrideo Sara, Incorpora Gemma, Labate Angelo, Pasqua Angela Aurora, Civitelli Donatella, Polizzi Agata, Annesi Ferdinanda, Spadafora Patrizia, Tarantino Patrizia, Cirò Candiano Innocenza C, Romeo Nelide, De Marco Elvira Valeria, Ventura Patrizia, LePiane Emilio, Zappia Mario, Aguglia Umberto, Pavone Lorenzo, Quattrone Aldo

机构信息

Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.

出版信息

Epilepsia. 2003 Sep;44(9):1257-8. doi: 10.1046/j.1528-1157.2003.22503.x.

DOI:10.1046/j.1528-1157.2003.22503.x
PMID:12919402
Abstract
摘要

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引用本文的文献

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Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area.伴有热性惊厥附加症的全身性癫痫（GEFS(+)）：特定区域的分子分析
Childs Nerv Syst. 2012 Jan;28(1):141-5. doi: 10.1007/s00381-011-1592-9. Epub 2011 Oct 20.
3
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.
一种BAC转基因小鼠模型揭示了伴有热性惊厥附加症的全身性癫痫（GEFS+）突变对神经元亚型的特异性影响。
Neurobiol Dis. 2009 Jul;35(1):91-102. doi: 10.1016/j.nbd.2009.04.007. Epub 2009 May 3.
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Regulation of persistent Na current by interactions between beta subunits of voltage-gated Na channels.电压门控钠通道β亚基间相互作用对持续性钠电流的调节
J Neurosci. 2009 Feb 18;29(7):2027-42. doi: 10.1523/JNEUROSCI.4531-08.2009.
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Traffic jam at the sodium channel.钠通道出现堵塞。
Epilepsy Curr. 2008 May-Jun;8(3):81-2. doi: 10.1111/j.1535-7511.2008.00246.x.
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J Clin Invest. 2005 Aug;115(8):2010-7. doi: 10.1172/JCI25466.
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J Neurosci. 2004 Nov 3;24(44):10022-34. doi: 10.1523/JNEUROSCI.2034-04.2004.